Hershfield (2003) stated that red cell 2-prime-deoxyadenosine triphosphate (dATP dAXP), a substrate of adenosine deaminase, is elevated by 30-fold to greater than 1,500-fold in SCID patients. Some patients had characteristic skeletal abnormalities, and all had thymic involution with Hassall's corpuscles and differentiated germinal epithelium. (1975) noted that the phenotype is transmitted as an autosomal recessive disorder. Reporting on a workshop on SCID due to ADA deficiency, Meuwissen et al. Two infants had successful bone marrow transplantation with restoration of normal cellular and humoral immunity, but erythrocytic ADA deficiency persisted. None of the infants had detectable erythrocyte ADA activity. (1975) reported 3 affected infants from 2 families with SCID due to ADA deficiency inherited in an autosomal recessive pattern. The finding that both pairs of parents had an intermediate level of red cell ADA supported recessive inheritance the parents of the first child had about a 50% level of normal, whereas the parents of the second child had about a 66% level. The parents of the first child were related and the second child had a sister who died as a result of a major immunologic defect ( Hong et al., 1970). Mild upper respiratory infections began at age 24 months and progressed to severe pulmonary insufficiency and hepatosplenomegaly by age 30 months. The other, aged 3.5 years, was allegedly normal in the first 2 years of life. One child, aged 22 months, had recurrent respiratory infections, candidiasis, and marked lymphopenia from birth. (1972) reported 2 unrelated girls with impaired cellular immunity and absence of red cell adenosine deaminase activity. Severe combined immunodeficiency, X-linked Severe combined immunodeficiency due to ADA deficiency SCID, autosomal recessive, T-negative/B-positive typeīare lymphocyte syndrome, type II, complementation group B Severe combined immunodeficiency, B cell-negativeīare lymphocyte syndrome, type II, complementation group Dīare lymphocyte syndrome, type II, complementation group A Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Bare lymphocyte syndrome, type II, complementation group Eīare lymphocyte syndrome, type II, complementation group C
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